Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Journal of Medical Genetics

Volumn 48, Issue 1, 2011, Pages 55-63

  Maupetit Méhouas, Stéphanie ^a   Mariot, Virginie ^a   Reynès, Christelle ^b   Bertrand, Guylène ^c   Feillet, Francois ^d   Carel, Jean Claude ^b   Simon, Dominique ^b   Bihan, Hélène ^e   Gajdos, Vincent ^f   Devouge, Eve ^g   Shenoy, Savitha ^h   Agbo Kpati, Placide ⁱ   Ronan, Anne ^j   Naud Saudreau, Catherine ^k   Lienhardt, Anne ^l   Silve, Caroline ^a,c   Linglart, Agnès ^a,m  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c BICHAT HOSPITAL   (France)

^d CHU NANCY BRABOIS   (France)

^e AVICENNE HOSPITAL   (France)

^f HÔPITAL ANTOINE BÉCLÈRE   (France)

^g Hôpital d'Arras   (France)

^h LEICESTER ROYAL INFIRMARY   (United Kingdom)

ⁱ Centre hospitalier de Lagny Marne la Vallee   (France)

^j Hunter Health   (Australia)

^k centre hospitalier de Bourg en Bresse   (France)

^l Hopital de la Mere et de l'Enfant   (France)

^m HÔPITAL SAINT VINCENT DE PAUL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; CYTOSINE; DNA; PARATHYROID HORMONE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; EPIGENETICS; FEMALE; GENE; GENE LOCUS; GNAS GENE; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MOSAICISM; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; PROTEIN METHYLATION; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE IB; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENES, DOMINANT; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; PHENOTYPE; PSEUDOHYPOPARATHYROIDISM; SEQUENCE ANALYSIS, DNA;

EID: 78951484721     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.081356     Document Type: Article

References (42)

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